MGP Database

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MGP006012

UniProt Annotations

Entry Information
Gene Nametubulin, beta 1 class VI
Protein EntryTBB1_HUMAN
UniProt IDQ9H4B7
SpeciesHuman
Comments
Comment typeDescription
DiseaseMacrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]: A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. {ECO:0000269|PubMed:18849486}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). {ECO:0000250}.
PtmSome glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable). {ECO:0000305|PubMed:19524510}.
SimilarityBelongs to the tubulin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton {ECO:0000269|PubMed:18849486}.
SubunitDimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head- to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with RANBP10. {ECO:0000269|PubMed:18347012}.
Tissue SpecificityHematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins. {ECO:0000269|PubMed:20191564}.
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